Variant report

Variant	rs4838365
Chromosome Location	chr10:50322283-50322284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:

Variant related genes	Relation type
ENSG00000172538	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11100988	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11100989	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11100990	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12240534	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12246766	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12255055	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12267388	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12776553	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13088	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17782733	0.83[ASN][1000 genomes]
rs1986725	0.93[EUR][1000 genomes]
rs2804939	0.91[EUR][1000 genomes]
rs2804940	0.91[EUR][1000 genomes]
rs35007047	0.81[ASN][1000 genomes]
rs35285557	0.84[ASN][1000 genomes]
rs35666409	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36015645	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073711	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4240499	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4240500	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4344406	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4350286	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4364979	0.84[ASN][1000 genomes]
rs4403731	0.82[AMR][1000 genomes]
rs4412679	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4417190	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4497320	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4509682	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4532948	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4558091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559606	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620641	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4644582	0.84[ASN][1000 genomes]
rs4838367	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838447	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7072243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7097933	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv550817	chr10:50319387-50328494	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50315000-50322600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:50315400-50323000	Weak transcription	Pancreas	Pancrea
4	chr10:50315600-50323000	Weak transcription	Spleen	Spleen
5	chr10:50315800-50322600	Weak transcription	Liver	Liver
6	chr10:50318200-50322800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:50319000-50322800	Weak transcription	Esophagus	oesophagus
8	chr10:50319600-50322600	Weak transcription	Psoas Muscle	Psoas
9	chr10:50319800-50323000	Weak transcription	Lung	lung
10	chr10:50320400-50322400	Weak transcription	Colonic Mucosa	Colon
11	chr10:50320800-50322600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:50321000-50323200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr10:50321400-50322400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
14	chr10:50321600-50322400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:50321600-50322400	Flanking Active TSS	Ovary	ovary
16	chr10:50321600-50322400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr10:50321600-50322600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:50321600-50322600	Enhancers	Brain Angular Gyrus	brain
19	chr10:50321600-50322600	Flanking Active TSS	Osteobl	bone
20	chr10:50321600-50322800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr10:50321600-50323000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:50321800-50322400	Enhancers	Fetal Heart	heart
23	chr10:50321800-50322400	Flanking Active TSS	HSMMtube	muscle
24	chr10:50321800-50324000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
25	chr10:50322000-50322400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:50322000-50322400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:50322000-50322400	Flanking Active TSS	HSMM	muscle
28	chr10:50322000-50322600	Flanking Active TSS	Fetal Lung	lung
29	chr10:50322000-50322600	Enhancers	Rectal Smooth Muscle	rectum
30	chr10:50322000-50322600	Enhancers	K562	blood
31	chr10:50322000-50322600	Weak transcription	NH-A	brain
32	chr10:50322000-50322800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:50322000-50322800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr10:50322000-50322800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr10:50322000-50323000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr10:50322000-50323000	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr10:50322000-50323200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr10:50322000-50323200	Flanking Active TSS	NHLF	lung
39	chr10:50322000-50324000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr10:50322200-50322400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:50322200-50322400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:50322200-50322400	Flanking Active TSS	Left Ventricle	heart
43	chr10:50322200-50322400	Flanking Active TSS	Right Atrium	heart
44	chr10:50322200-50322400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr10:50322200-50322400	Bivalent Enhancer	Stomach Mucosa	stomach
46	chr10:50322200-50322600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:50322200-50322600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr10:50322200-50322600	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr10:50322200-50322600	Bivalent Enhancer	Fetal Thymus	thymus
50	chr10:50322200-50322800	Enhancers	Brain Anterior Caudate	brain

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